My story is like all the others, I’m just another young woman in the world but rare.

My name is Catarina Costa and I live in Portugal. For 20 years I have lived with an inseparable “friend” MSUD.

When I was born in 1994 there was no way to detect my disease in my country. Everything was fine until I refused the breast of my mother with an annoyed cry. This was taken as normal, and my mother thought I might not have been hungry. Over the next few days I started making repetitive movements with the legs like riding a bicycle, but I could not control them.

My parents took me to the doctor and he thought the problem was that I was not eating. He gave me a bottle with regular baby formula. After a few hours I was in a coma. Exams hither and thither and the diagnosis was not arrived at until after 13 days of life. I was given dialysis to lower my BCAA levels quickly.

In Portugal at that time only the MSUD formula was available, not special food without protein, so I ate only fruit, vegetables and corn flour. I was very small and skinny for my age. Low protein foods became available when I was 4 years old, and my parents paid for them.

We moved to the country when I was five years old. I was in a small group at school to reduce the risk of infection. I had walking difficulties because I put the feet aside and could not climb stairs. In two years I learned to walk and climb stairs, thanks to river stones in the mountain and to a lady who looked after me, who became like a second mother to me. My food was controlled with diet and the formula with valine and isoleucine supplements.

My childhood was good without metabolic crises or infections. I had no problems at school. I had lunch at home and when there were parties the mothers of my friends made vegetarian gelatin for me to eat. By this time special food without protein was available and was paid for by the Portuguese government.

Adolescence was complicated because I started to become aware of the disease and its day to day difficulties. I wanted to be normal thousand times... I had problems in my relationships with others for fear of what they thought of the disease.

I did my schooling with good grades. I had some difficulties in physical education, drawing and mathematics and needed to make an extra effort.

At this moment I have a slightly more liberal diet with potatoes, rice and yogurt, along with my formula and low protein food. I have been eating this way for three years. This has brought me a great joy as I can have dinner with friends without carrying the food with me, and have gained some weight so I am not so skinny.

I’m in the last year of the University where I study Portuguese and Spanish to one day be a teacher. My real dream is to help in a community that needs me. I have friends and have lost the fear to show who I really am. I have a boyfriend too and he told me “you are normal like me only you eat vegetables but one day I know you will be able to eat everything you want.” I wrote a poetry book in 2012 and I hope to write histories for children and a book about my life.

I want to go to the international meeting for MSUD one day to finally meet those I wrote to and helped over 6 years every night on Facebook. One day I would like to have a liver transplant.

MSUD is not a prison. I live well with it and I think that it has given me a special sensitivity to others. I answer questions, explain in a thousand ways what I have, and even I laugh about it. I am happy living like that. Next year I plan to go to Spain as part of my education to be a teacher. I hope to be accepted to a program in Madrid or Barcelona.

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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MSUD Advocacy Report

Medical Nutrition Equity Act

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